Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs28939378

ALG1

rs28939378 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALG1. Location: chromosome 16, position 5,128,790. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

ALG1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
16:5128790
Cytoband
16p13.3
HGVS
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)
Allele change
Missense_S258L

Associated conditions / phenotypes

ALG1-congenital disorder of glycosylation|Inborn genetic diseases|Congenital disorder of glycosylation|Finnish congenital nephrotic syndrome|Encephalopathy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.